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Transcriptome Changes in ASD (NRXN1ÃŽÂ±+/-) iPSC-derived neurons

ABSTRACT: NRXN1 deletions are identified as one of major rare risk factors for autism spectrum disorder (ASD) and other neurodevelopmental disorders. ASD has 30% co-morbidity with epilepsy and the latter is associated with excessive neuronal firing. NRXN1 encodes hundreds of presynaptic neuro-adhesion proteins categorized as NRXN1ÃŽÂ±/ÃŽÂ²/ÃŽÂ³. Previous studies on cultured cells show that the short NRXN1ÃŽÂ² primarily exerts excitation effect, whereas the long NRXN1ÃŽÂ± which is more commonly deleted in patients involves in both excitation and inhibition. However, patient-derived models are essential for understanding functional consequences of NRXN1ÃŽÂ± deletions in human neurons Quantitative RNA sequencing was performed by BGI using 50bp single-end strategy with BGI-SEQ500 sequencing device on iPSC-derived cortical neurons from 6 control lines; (2VC1, 3VCX1, 3VC2, 4C3, 4CX1, NCRM-1) of 4 healthy donors, and 4 NRXN1ÃŽÂ±+/- lines; (ND1C1, ND2C11, ND2CX1, ND4-1C2) from 3 ASD patients.

PROVIDER: EGAS00001005536 | EGA |

REPOSITORIES: EGA

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